ZMP
psen1
Ensembl ID:
ZFIN ID:
Description:
Presenilin-1 [Source:UniProtKB/Swiss-Prot;Acc:Q9W6T7]
Human Orthologue:
PSEN1
Human Description:
presenilin 1 [Source:HGNC Symbol;Acc:9508]
Mouse Orthologue:
Psen1
Mouse Description:
presenilin 1 Gene [Source:MGI Symbol;Acc:MGI:1202717]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| hu2548 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
hu2548
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000033514 | Nonsense | 408 | 456 | 11 | 11 |
Genomic Location (Zv9):
Chromosome 17 (position 51732154)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 17 | 51118264 |
| GRCz11 | 17 | 51207299 |
KASP Assay ID:
554-0034.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGACAATCAACTCAAAACCCTCTTGGCTTTGTTTCTCCTCAGGGTTTATG[T/A]CTGACTCTCCTCCTGCTGGCCATCTTCAAGAAGGCTCTTCCCGCACTCCC
Long Flanking Sequence:
TGGACAGACAGACAGACTGATAGACAGACAGACAGACAGATAGATAGATAGATAGATAGATAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGACAGACAGACAGATAGTTATTGATTTTTTTTATTTCAATAATATATTACTTGTTAATTTCTTTGGACTCTGATTTAATGGCTAAATTTAAAAACTGAAATACACTATTTTTTTCTCAACCTCTGTGAATAATAAAAAATAAAAAAAAGATGATCTGACTAACACATCTGCTATTCAGAATCACTATTCTGAGCAAATGCTTCAGTTTTGCTGCACAGTCCGTCAGACAATCAACTCAAAACCCTCTTGGCTTTGTTTCTCCTCAGGGTTTATG[T/A]CTGACTCTCCTCCTGCTGGCCATCTTCAAGAAGGCTCTTCCCGCACTCCCCATCTCCATAACCTTCGGCCTGGTGTTTTACTTTGCCACTGATAACCTCGTGCGGCCGTTCATGGACCAGCTGGCCGTCCATCAGTTCTACATATAGAGAGGTCGCCTCTCACACACTCCACTTTCATGCTCTTCAGGGAAACGTGAGCCCTGCAGACGAGCACACCTTTCCTCTTTTCTGGACATGTGACTGGATTCACACTAGTTTTTTTTATTTTGGCATTAAATGACTGGTTATTAATTACAGTGCCTCTCCATCTGATCCTGATATATGCTTTAGTAGCAGCATTGATCGGAACATTTGTTTTCGGAGAGAACGCAGAGCACATCTCAAGTCACACGTATGTATGAATGCATTAGCGTAGGGCAGGGGTGTCAAACTCAGTTGCTGGCGTTTAGCTCCAACCCTGCTTCAACACACTCACCTATAGGTTTCAAACAAGCCTGAAG
Associated Phenotype:
Not determined